Table 3.

Mutation Screen for Candidate Genes in 9q31-q32

Gene and Region	PCRProduct(bp)	Forward and Reverse Primers	Variations
ACTL7A:
Promoter	527	3′-TGAGGCCTACCATGAGCTGCTTGC-5′	SNP at −739 from start codon (A/G)
		5′-ATCCCTTATTCTAGTCGGTGGCGG-3′
5′ UTR, N-term	512	3′-CCACCCTGCTTTTGCTCTTAACG-5′
		5′-GGCCATCCCTTAAAGAGGCAGTC-3′
Coding	498	3′-ACCAAGAAGGTGGGCAACCAG-5′	Missense mutation (Ala481Pro)
		5′-GTTGGTGTGTGGGCTCAGTGG-3′
Coding	540	3′-TCCGACAAGAGATGAAGATCGCC-5′
		5′-CCAGCTGCATGGACTTGATGAGA-3′
Coding	527	3′-TGGGAAGGAGATTCAGCTGTGCC-5′	Missense mutation (Val1018Met)
		5′-CACACTGTGGAGGGGCATATGAG-3′
C terminal, 3′ UTR	446	3′-GTACGAGGAACACGGGCCTTTCT-5′
		5′-TGCCCCAACAGCATTTACCCTCT-3′
ACTL7B:
Promoter	480	3′-GCA TCACCTCTCTAGAGCACC-5′
		5′-GCATTTCCATGCCTAAGGTGTTCA-3′
5′ UTR, N terminal	496	3′-TGCCTTACTGGAGGGGCTCAAAT-5′
		5′-GGGCTTCATCTTGAGCTGAGTGG-3′
Coding	498	3′-GAGGCAGATGGCGACAAGGAACA-5′
		5′-GCGTACTTCTCCCGGTTGCTGCT-3′
Coding	496	3′-TGGGAGTACATCTTCCGCACCGCC-5′
		5′-GCTCCTGGCCAATAGTGATGAGTT-3′
Coding	524	3′-GGACGACCACCTGCACATCATAG-5′
		5′-ATGCCGAGGCTCAGCACTTGCTG-3′
C terminal, 3′ UTR	511	3′-CAGCTCTGGGTCAGCAAGGAAGA-5′
		5′-GAAACAGGAGACTGGAGTCGGAC-3′
CTNNAL1 Exon:
1	477	3′-AGAAGAGATAAGGGCGGGGCCAT-5′
		5′-GGCGGGAAGGAGAAGAGGGGC-3′
2	429	3′-TGCCAGGCTTCATTTTCTTTGAC-5′
		5′-GTATTCGCGGAAGCTAATCCAGG-3′
3	380	3′-GCTGAGTTTCTCCTCATTGTGCC-5′
		5′-ACAAGCCAAGCAATCCACCACTA-3′
4	354	3′-CCCCTTGTGTGTCTTCTATCTGGC-5′	SNP at intron 3 (−84 from exon 4): C/G
		5′-CCAGTCCAAACAATCCTAACGATC-3′
5	367	3′-TCACATGGTCTTAGACTCCTCCGT-5′
		5′-ACACCATGTTCTGCTGAGCTGTTC-3′
6	421	3′-GTGAGCCAGGGACCCAGGAGATT-5′
		5′-GAGCCGAGATCACACCACTGCAC-3′
7	442	3′-TCCCCTCAGCTTGGGAAAAGGAA-5′
		5′-CCTGTCCCATTCTGGAACAAATTC-3′
8	289	3′-GAGATGCGGTAACATTACATGTAT-5′
		5′-GAATTACGGGCATGAGCCACCAT-3′
9	494	3′-AGTGGAACCCATGGAACTGCTTT-5′	CA repeats at intron 8 (−8 from exon 9): (CA)5/(CA)4
		5′-TTTAGAGGCCAGACTGTTGCAGG-3′
10	500	3′-CACCTTGCCATGATTGGATAGGA-5′	SNP at intron 10 (94 from exon 10): C/T
		5′-GCCATGTTCTGGCACACTACCAA-3′
11	388	3′-ATTGCCCAACATGGAGCTTGTGT-5′
		5′-TCATTTGCAGTTGAGGTTTGGCA-3′
12	363	3′-GGAGAGGTGGAGATTGACCAGCA-5′
		5′-TTGTGGTAGAGGGGAGCAGCAAC-3′
13, 14	609	3′-GGCACTGACTTGCTTTCTCTGGC-5′	Deletion (G/D) at intron 12 (−139)
		5′-ACCGACTTTAACCTGTCAATGATT-3′	SNP (T/G) at intron 12 (−122)
15	554	3′-TTCAGTGATATGCCTCATCAAGGTA-5′
		5′-CCCACTTTTAGCCCGAAATTAAA-3′
16, 17	476	3′-ACCAACTATCCATAGACATCAGTC-5′
		5′-AGGAAATAAATTGCCCTTCTGTGG-3′
18, 19	610	3′-AATGGTAAGGTCTTTTAAGTACTA-5′
		5′-GACAGTTGGGATATTTGGTTTGA-3′